Alpha-cardiac actin mutations produce atrial septal defects (Q24298075)

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Language	Label	Description	Also known as
English	Alpha-cardiac actin mutations produce atrial septal defects	scientific article

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scholarly article

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Alpha-cardiac actin mutations produce atrial septal defects (English)

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9

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author name string

Hans Matsson

1

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Jacqueline Eason

2

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Carol S Bookwalter

3

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Joakim Klar

4

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Peter Gustavsson

5

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Jan Sunnegårdh

6

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Henrik Enell

7

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Anders Jonzon

8

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Ilse Gutierrez

10

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Javier Granados-Riveron

11

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Mark Pope

12

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Frances Bu'Lock

13

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Jane Cox

14

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Thelma E Robinson

15

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Feifei Song

16

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David J Brook

17

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Steven Marston

18

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Kathleen M Trybus

19

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Niklas Dahl

20

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language of work or name

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publication date

15 January 2008

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Human Molecular Genetics

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17

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2

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256-65

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Incidence of congenital heart disease: I. Postnatal incidence.

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Congenital heart disease caused by mutations in the transcription factor NKX2-5

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Mutation in myosin heavy chain 6 causes atrial septal defect

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

The functional importance of multiple actin isoforms

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

A series of normal stages in the development of the chick embryo. 1951

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Actin bundles on the right side in the caudal part of the heart tube play a role in dextro-looping in the embryonic chick heart

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Role of actin polymerization in bending of the early heart tube

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Tropomyosin positions in regulated thin filaments revealed by cryoelectron microscopy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Cardiac septation: a late contribution of the embryonic primary myocardium to heart morphogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Intracardiac fluid forces are an essential epigenetic factor for embryonic cardiogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Rescue of cardiac alpha-actin-deficient mice by enteric smooth muscle gamma-actin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Cellular Disorganization and Extensive Apoptosis in the Developing Heart of Mice that Lack Cardiac Muscle α-Actin: Apparent Cause of Perinatal Death

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Development and structure of the atrial septum

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Skeletal actin mRNA increases in the human heart during ontogenic development and is the major isoform of control and failing adult hearts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Biochemical studies of myosin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Glycine 699 is pivotal for the motor activity of skeletal muscle myosin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Roles for alpha 1 connexin in morphogenesis of chick embryos revealed using a novel antisense approach.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Connexin alpha1 and cell proliferation in the developing chick retina.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

α-Actin isoform distribution in normal and failing human heart: a morphological, morphometric, and biochemical study

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

21 January 2018

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